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12 articles were included in this study. The pooled results did not reveal a significant association of the MTRR A66G polymorphism (G vs. A: OR = 0.99, 95% CI = 0.82-1.18, p = 0.72) with Nonsyndromic Cleft Lip With or Without Cleft Palate risk
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The findings of the present case-control study did not support an association between the TCN2 rs1801198 and TCN2R rs2336573 polymorphisms and the risk of recurrent spontaneous abortion in a sample of the Iranian population.
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Genotypes of transcobalamin 2 (TCN2) rs1801198, methionine synthase (MTR) rs1805087, methionine synthase reductase (MTRR) rs1801394, and methylene tetrahydrofolate reductase (MTHFR) rs1801133 were examined in 201 children with Autism Spectrum Disorder and 200 healthy controls from the Han Chinese population. Our results showed no association of all examined SNPs with childhood ASD and its severity.
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Proteomics analysis of glioblastoma cell line under hypoxia identified B12 transporter protein TCN2, which is essential for one-carbon metabolism, as being significantly downregulated. TCN2 downregulation seems to play an important role in controlling cell transformation to a highly aggressive mesenchymal/cancer stem cell (CSC), whereas high expression of TCN2 can reverse it.
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TCN2 (rs1801198, rs9606756) variations, as well as serum levels of Hcy, vitamin B12 and folate, are correlated with ulcerative colitis.
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tagSNPs in MTHFR, MTR, MTRR, and TCN2 were not associated with NSCLP in our study, but continued exploration, including allele frequency of various populations and molecular mechanism of the gene-gene interactions of the genes, may provide additional insight into NSCLP.
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TCN2 (rs1801198, rs9606756) polymorphisms as well as folate deficiency and vitamin B12 deficiency are correlated with Crohn's disease.
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The rs9606756[c.67A>G,p.Ile23Val] variant from TCN2 was associated with waist circumference (WC) at nearly genome-wide significance (P = 8.92E-08).
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TC deficiency has a wide heterogeneity in clinical phenotype, genotype, laboratory, and radiologic findings. Early detection of the disease and early initiation of aggressive parenteral treatment is probably associated with better prognosis and disease control.
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Meta-analysis results indicate an influence of rs1801198 on holotranscobalamin and homocysteine concentrations in European-descent subjects.
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TCN2 polymorphism is associated with ulcerative colitis.
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A novel homozygous mutation (c.1106+1516_1222+1231del) was detected in 7 patients from 5 families. A 5304-bp deletion that begins 1516 bp into intron 7 and ends 1231 bp into intron 8 was observed. The deletion includes all of exon 8 and causes a frameshift to produce a premature stop of 4 codons into the new reading frame (counting ATG as 1).
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The association of the TCN2 polymorphism with peripheral neuropathy was independent of vitamin B-12 intake.
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G/G homozygosity of C776G TC2 and the C/G genotype of the C776G TC2 genegene polymorphism increases the risk of oral cancer
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The mutation does not seem to interfere with the function of TC, but the mutation may well explain the low level of holoTC detected by the Abbott assay. The results underscores that mutations of TCN2 have to be considered when implausible holoTC results are obtained.
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4 patients with transcobalamin II deficiency were found to have novel mutations, of whom 2 had the same large deletion (homozygous c.1106+1516-1222+1231del). One had c.1107- 347_1222+981delin 364. Another had homozygous c.106C>T. (Q36X).
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There were no other associations between single -nucleotide polymorphisms and the efficacy of MTX treatment. CONCLUSIONS: The MTHFR 677CC and GGH 401TT and CT genotypes were associated with a reduction in the number of MTX-related adverse events.
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Report TCN2 mutations causing transcobalamin deficiency in an Indian patient.
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Although not significant when corrected for multiple testing, eight single nucleotide polymorphisms (SNPs) in two genes, transcobalamin II (TCN2) and the transcobalamin II-receptor (TCblR), were found to influence several clinical traits of cobalamin deficiency.
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In Asian populations, the investigated polymorphisms mapping at TCN2 and CBS genes did not provide any evidence of association with cleft lip/cleftpalate.
